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Alliance"],"accepted":{"date-parts":[[2024,8,1]]},"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:p>Structural variants (SVs) of unknown significance are great challenges for prenatal risk assessment, especially when involving dose-sensitive genes such as<jats:italic>DMD<\/jats:italic>. The pathogenicities of 5\u2032-terminal<jats:italic>DMD<\/jats:italic>duplications in the database remain controversial. Four prenatal cases with Xp21.1 duplications were identified by routine prenatal genomic testing, encompassing the 5\u2032-UTR to exons 1\u20132 in family 1 and family 2, and to exons 1\u20139 in family 3. The duplication in family 4 was non-contiguous covering the 5\u2032-UTR to exon 1 and exons 3\u20137. All were traced to unaffected males in the family pedigrees. A new genome-wide approach of optical genome mapping was performed in families 1, 2, and 3 to delineate the breakpoints and orientation of the duplicated fragments. The extra copies were tandemly inserted into the upstream of<jats:italic>DMD<\/jats:italic>, preserving the integrity of ORF from the second copy. The pathogenicities were thus reclassified as likely benign. 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